You are here

Article Text

Article menu
Download PDFPDF
Case Reports: Rare disease
Case report of H-syndrome with a review from a rheumatological perspective
  1. Sandeep Yadav and
  2. Balakrishnan Canchi
  1. Rheumatology, PD Hinduja National Hospital and Medical Research Centre, Mumbai, Maharashtra, India
  1. Correspondence to Dr Sandeep Yadav; sandy0751{at}gmail.com

Abstract

A woman in her 20s, symptomatic since the age of 4 with short stature, hearing loss, skin hyperpigmentation and induration over the medial aspect of the thigh, hypertrichosis, histiocytes on biopsy, lymphadenopathy, dilated scleral vessels, pancreatic exocrine deficiency, pericardial thickening, swelling of the eyelids and resistant retroperitoneal fibrosis. Whole-genome sequencing showed a mutation in SLC29A3, confirming ‘H’-syndrome. She is on steroids and methotrexate. This case highlights the rheumatological mimics of this rare disorder.

  • Dermatology
  • Rheumatology
  • Dermatological
  • Musculoskeletal syndromes

http://dx.doi.org/10.1136/bcr-2022-249414

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    View Full Text

    Footnotes

    • Twitter @sandeepyadavsk

    • Contributors SY and BC, both authors have contributed equally in conception, designing, defining the intellectual content, acquisition of data analysis and its interpretation. SY have done the literature review. SY and BC, both authors have contributed equally in drafting the manuscript, editing and reviewing it. SY and BC, both have approved the final version of the manuscript to be published and are in agreement to be accountable for the article and ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.